Living with Acyl-CoA dehydrogenase 9 deficiency
A rare inherited condition that can affect the brain, liver, heart, and muscles, caused by a problem with energy-making in cells.
Understanding Acyl-CoA dehydrogenase 9 deficiency
It is caused by a lack of complex I, part of the chain that cells use to make energy (the respiratory chain). It can begin anywhere from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart muscle problems (cardiomyopathy)
- Heart failure
- Low muscle tone (hypotonia)
- Muscle weakness and tiring easily
- Poor weight gain (failure to thrive)
- Brain dysfunction (encephalopathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in ACAD9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FOD (Fatty Oxidation Disorder) Family Support Group and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ACAD9 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acad9 deficiency; acyl-coa dehydrogenase family, member 9, deficiency of; mitochondrial complex i deficiency due to acad9 deficiency; mitochondrial complex i deficiency, nuclear type 20
Patient organizations
- FOD (Fatty Oxidation Disorder) Family Support GroupAcyl-CoA dehydrogenase 9 deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acyl-CoA dehydrogenase 9 deficiency.
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